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Personal genomics: the future of healthcare?

Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information.

What is personal genomics?

The Human Genome Project sequenced DNA pooled from a range of individuals, to create an average or ‘reference’ genome. However, every genome is unique, and, with the development of DNA sequencing technologies, it is now becoming practical and affordable for individuals to choose to get their genomes sequenced. This is called personal genomics.

Steve Jobs, co-founder of Apple Inc., was one of the first 20 people in the world to have his DNA sequenced, for which he paid $100,000.

The first individuals to have their ‘personal’ genomes sequenced were Craig Venter, founder of Celera Genomics, and James Watson, co-discoverer of the DNA double helix. Steve Jobs, co-founder of Apple Inc., was one of the first 20 people in the world to have his DNA sequenced, for which he paid $100,000. He also had the DNA of his cancer sequenced, in the hope it would provide information about more appropriate treatments for him and for other people with the same cancer.

Although the ability to choose to access your own genetic information is still a relatively young phenomenon, it is thought that one day it could form a key part of our everyday healthcare. Personal genomics could allow us to optimise our health on a whole different level to improving our diet and doing more exercise.

Why carry out personal genomics?

By sequencing individual genomes researchers can uncover large amounts of information concerning all aspects of that individual’s physiology, from their susceptibility to certain diseases to the way they respond to specific drugs.

The genetic information from an individual can, in some cases, be used to select the most appropriate drug to prescribe to a patient.

One area personal genomics is particularly useful in, is pharmacogenomics. The genetic information from an individual can, in some cases, be used to select the most appropriate drug to prescribe to a patient. This helps doctors to ensure that the drug has the maximum effect while minimising any potential side effects.

Personal genomics can also be used to predict or confirm a genetic disease. By looking at an individual’s genome it is possible to identify genetic variants that may increase the likelihood of an individual having a genetic disease later on in life. For example, it can be used to tell a woman if she carries the BRCA1 breast cancer gene and, if so, how much it increases the probability of her having breast cancer during her lifetime. This gives the individual the option of taking preventative measures, for example, if a woman finds her risk of breast cancer is high she may decide to have an operation to remove breast tissue (mastectomy).

Dr. Francis Collins, director of the NIH and one of the leaders during the Human Genome Project, discusses how the completed human genome sequence has enabled the development of more personalised approaches to medicine.

Personal genomics can also be used to advise couples wanting to have children. For example, it is possible to be a ‘carrier’ of a genetic disorder such as cystic fibrosis, which means that an individual has one of the two genes for the disorder but does not exhibit symptoms. However, if their partner is also a carrier the chance of their child having the full disorder is dramatically increased.

In Vitro Fertilisation (IVF) is where embryos can be screened for genetic disorders prior to implantation in the womb.

By knowing the risk of passing on a genetic disorder to their child, they may decide to investigate other ways of having a baby, such as in vitro fertilisation (IVF). This can enable embryos to be screened for genetic disorders prior to implantation in the womb.

Currently, personal genome sequencing is a relatively niche market with a number of services available over the internet. However, the commercialisation of personal genome sequencing is set to grow and, in future, it could become a routine part of clinical practice.

This is important as the more we know about our individual genes and disease risk the more easily we will be able to take lifestyle choices that lessen the likelihood of developing these diseases, or delay their onset.

Ultimately, we can only learn more about genetic risks by comparing many genomes in research studies. With this in mind, some people with personal genome sequences may choose to participate in research projects and allow scientists to study their genomic data to help advance knowledge in the field.

Personal Genome Project

Announced in 2005, the Personal Genome Project is a large, long-term study looking to sequence and analyse the genomes of over 100,000 people across the world. In contrast to other studies of a similar size, the Personal Genome Project publishes all of its data online for all to see. With this approach they hope to dramatically speed up research into personal genomics and go some way to fulfilling the curiosity many of us have about our genomes.

All the volunteers have to provide a cheek swab, which they take themselves, and a blood or skin sample, which is taken at a clinic. Their DNA is isolated from these samples. They also have to provide information about their phenotype including medical records and various different measurements such as height and weight. This allows the research to examine the relationship between phenotype, our genes and our environment.

Non-anonymous participation

After sequencing and analysis, each of the volunteer’s genetic results are sent back to them and, a month later, posted online for all to see. Although no names or addresses are posted alongside the results, participation in the project had to be ‘non-anonymous’. This is because one of the most identifiable pieces of personal information is our DNA sequence. Even if a name or photograph is not provided, it may, in some cases, be possible to identify someone from the information in their DNA sequence.

This means that the privacy of all Personal Genome Project volunteers cannot be guaranteed. To show that they understand this, all volunteers have to take a number of short online tests. By passing the tests the volunteers show that they are able to provide ‘informed’ or ‘open’ consent for their genetic material to be publicised without the promise of privacy. The tests also make sure they understand the possibility of finding out about diseases they may be at risk of developing later on in life.

The Personal Genome Project is the first project of this kind to work on the basis of informed consent. This aspect of the project has been considered controversial by some. However, by ensuring fully informed consent is an integral part of the project, all participants will be sufficiently informed of the risks before they agree to sign up to the study.

Open access

The Personal Genome Project is committed to the sharing of data for the advancement of science. By making all of the data collected, publicly and freely available to all, they hope that it will reach scientists, drug companies and research institutes across the world.

The Personal Genome Project could help scientists learn more about how genetic and environmental factors interact to cause disease.

The Personal Genome Project is effectively building a ‘treasure trove’ of genetic information. This paired with information about health and physical characteristics could dramatically accelerate scientific research. It could help scientists learn more about how genetic and environmental factors interact to cause disease and drive new treatments for diseases such as diabetes and cancer.

The UK arm of the Personal Genome Project was launched in 2013 and is based at University College, London.